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• W2080872642 abstract "Abstract Germline RET mutations are responsible for different inherited disorders: Hirschsprung disease (congenital aganglionic megacolon), caused by loss of function mutations, familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2, caused by gain of function mutations. Intriguingly, some RET mutations, including C620R, are associated with both types of diseases. To investigate the dual role of such RET mutations, a mouse model with a targeted mutation ret C620R was generated. ret C620R/C620R offspring die during the first postnatal day, and show kidney agenesis and intestinal aganglionosis. Decreased outgrowth of the Ret‐positive cells was observed in ret C620R/C620R neuronal cell cultures, which is suggestive of an impaired migration, proliferation or survival of the Ret‐expressing cells. Electronmicroscopy revealed the absence of membrane‐bound Ret in ret C620R/C620R cells as compared to ret +/+ and ret +/C620R cells. On the other hand, aged ret +/C620R mice develop precancerous lesions in the adrenal gland or in the thyroid. Our results suggest that the ret C620R mutation has a loss of function effect in homozygotes and exhibits a dominant gain of function effect with low penetrance causing hyperplasia in heterozygotes. © 2007 Wiley‐Liss, Inc." @default.
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• W2080872642 date "2007-05-18" @default.
• W2080872642 modified "2023-10-18" @default.
• W2080872642 title "C620R mutation of the murineret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes" @default.
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• W2080872642 doi "https://doi.org/10.1002/ijc.22378" @default.
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